Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort

Gene

Volumn 521, Issue 1, 2013, Pages 160-165

  Faletra, Flavio ^a   Athanasakis, Emmanouil ^a   Morgan, Anna ^b   Biarnés, Xevi ^c   Fornasier, Federico ^b   Parini, Rossella ^d   Furlan, Francesca ^d   Boiani, Arianna ^e   Maiorana, Arianna ^e   Dionisi Vici, Carlo ^e   Giordano, Laura ^f   Burlina, Alberto ^f   Ventura, Alessandro ^b   Gasparini, Paolo ^b  

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^b UNIVERSITY OF TRIESTE   (Italy)

^c Institut Químic de Sarrià Universitat Ramon Llull   (Spain)

^d SAN GERARDO HOSPITAL   (Italy)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^f UNIVERSITY HOSPITAL OF PADOVA   (Italy)

Author keywords

ABCC8; Congenital hyperinsulinism; Hyperammonemia; Italy; KCNJ11; Mutation

Indexed keywords

ADENOSINE TRIPHOSPHATE SENSITIVE POTASSIUM CHANNEL;

ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; GENE; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; HYPERAMMONEMIA; INFANT; ITALY; MALE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ATP-BINDING CASSETTE TRANSPORTERS; COHORT STUDIES; COMPUTER SIMULATION; CONGENITAL HYPERINSULINISM; FEMALE; GLUTAMATE DEHYDROGENASE; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; HYPERAMMONEMIA; INFANT; ITALY; MALE; MITOCHONDRIAL PROTEINS; MUTATION; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, DRUG; SIRTUINS;

EID: 84876719167     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.03.021     Document Type: Article

References (53)

1. Bahi-Buisson N., et al. Neurological aspects of hyperinsulinism-hyperammonaemia syndrome. Dev. Med. Child Neurol. 2009, 51:77.
2. Bellanné-Chantelot C., et al. ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. J. Med. Genet. 2010, 47:752-759.
3. Bortot B., et al. High-throughput genotyping robot-assisted method for mutation detection in patients with hypertrophic cardiomyopathy. Diagn. Mol. Pathol. 2011, 20:175-179.
4. Bruninig G.J. Recent advances in hyperinsulinism and the pathogenesis of diabetes mellitus. Curr. Opin. Pediatr. 1990, 2:758-765.
5. Chiu K.C., et al. Glucokinase gene variants in the common form of NIDDM. Diabetes 1993, 42:579-582.
6. Crétolle C., et al. Partial elective pancreatectomy is curative in focal form of permanent hyperinsulinemic hypoglycaemia in infancy: a report of 45 cases from 1983 to 2000. J. Pediatr. Surg. 2002, 37:155-158.
7. De Lonlay P., et al. Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases. Eur. J. Pediatr. 2002, 161:37-48.
8. De Lonlay-Debeney P., et al. Clinical features of 52 neonates with hyperinsulinism. N. Engl. J. Med. 1999, 340:1169-1175.
9. Delonlay P., et al. Neonatal hyperinsulinism: clinicopathologic correlation. Hum. Pathol. 2007, 38:387-399.
10. Desmet F.O., et al. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res. 2009, 37:e67.
11. Fernández-Marmiesse A., et al. Mutation spectra of ABCC8 gene in Spanish patients with hyperinsulinism of infancy (HI). Hum. Mutat. 2006, 27:214.
12. Fournet J.C., et al. Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. Am. J. Pathol. 2001, 158:2177-2184.
13. Glaser B., et al. Genetics of neonatal hyperinsulinism. Arch. Dis. Child. Fetal Neonatal 2000, 82:F79-F86.
14. Grimberg A., et al. Diabetes. Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations. Diabetes 2001, 50:322-328.
15. Haffke M., et al. Structures of the nucleotide-binding domain of the human ABCB6 transporter and its complexes with nucleotides. Acta Crystallogr. D: Biol. Crystallogr. 2010, 66:979-987.
16. Haigis M.C., et al. SIRT4 inhibits glutamate dehydrogenase and opposes the effects of calorie restriction in pancreatic beta cells. Cell 2006, 126:941-954.
17. Halldorsdottir S., et al. A novel mutation of glutamate dehydrogenase (H262Y) in an infant with hyperinsulinemic hypoglycemia and hyperammonaemia. J. Endocrinol. Genet. 2000, 1:235-241.
18. Heslegrave A.J., et al. Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-hydroxyacyl-CoA dehydrogenase. Orphanet J. Rare Dis. 2012, 7:25.
19. Hon L.S., et al. Computational prediction of the functional effects of amino acid substitutions in signal peptides using a model-based approach. Hum. Mutat. 2009, 30:99-106.
20. Humphrey W., et al. VMD - Visual Molecular Dynamics. J. Mol. Graph. 1996, 14:33-38.
21. Huopio H., et al. Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J. Clin. Invest. 2000, 106:897-906.
22. Hussain K., Aynsley-Green A. Management of hyperinsulinism in infancy and childhood. Ann. Med. 2000, 32:544-551.
23. James C., et al. The genetic basis of congenital hyperinsulinism. J. Med. Genet. 2009, 46:289-299.
24. Kane C., et al. Loss of functional KATP channels in pancreatic beta-cells causes persistent hyperinsulinemic hypoglycemia of infancy. Nat. Med. 1996, 2:1344-1347.
25. Kapoor R.R., et al. Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. Eur. J. Endocrinol. 2009, 161:731-735.
26. Kapoor R.R., et al. Advances in the diagnosis and management of hyperinsulinemic hypoglycemia. Nat. Clin. Pract. Endocrinol. Metab. 2009, 5:101-112.
27. Li C., et al. Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. J. Biol. Chem. 2010, 285:31806-31818.
28. Mathew P.M., et al. Persistent neonatal hyperinsulinism. Clin. Pediatr. (Phila.) 1988, 27:148-151.
29. Menni F., et al. Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia. Pediatrics 2001, 107:476-479.
30. Nestorowicz A., et al. Genetic heterogeneity in familial hyperinsulinism. Hum. Mol. Genet. 1998, 7:1119-1128.
31. Otonkoski T., et al. Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. Diabetes 2006, 55:13-18.
32. Otonkoski T., et al. Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. Hum. Genet. 2007, 81:467-474.
33. Pearson E., et al. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous. PLoS Med. 2007, 4:e118.
34. Pinney S.E., et al. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. J. Clin. Invest. 2008, 118:2877-2886.
35. Rahier J., et al. Persistent hyperinsulinaemic hypoglycaemia of infancy: a heterogeneous syndrome unrelated to nesidioblastosis. Arch. Dis. Child. Fetal Neonatal Ed. 2000, 82:F108-F112.
36. Raizen D.M., et al. Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations. J. Pediatr. 2005, 146:388-394.
37. Ramensky V., et al. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 2002, 30:3894-3900.
38. Reese M.G., et al. Improved splice site detection in Genie. J. Comput. Biol. 1997, 4:311-323.
39. Sali A., Blundell T.L. Comparative protein modelling by satisfaction of spatial restraints. J. Mol. Biol. 1993, 234:779-815.
40. Santer R., et al. Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome. Hum. Genet. 2001, 108:66-71.
41. Smith T.J., et al. The structure of apo human glutamate dehydrogenase details subunit communication and allostery. J. Mol. Biol. 2002, 318:765-777.
42. Söding J. Protein homology detection by HMM-HMM comparison. Bioinformatics 2005, 21:951-960.
43. Stanescu D.E., et al. Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. J. Clin. Endocrinol. Metab. 2012, 97(10):E2026-E2030.
44. Stanley C.A. Hyperinsulinism in infants and children. Pediatr. Clin. North Am. 1997, 44:363-374.
45. Stanley C.A. Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism. Mol. Genet. Metab. 2004, 81(Suppl. 1):S45-S51.
46. Stanley C.A., et al. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N. Engl. J. Med. 1998, 338:1352-1357.
47. Stanley C.A., et al. Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene, HI/HA contributing investigators. Diabetes 2000, 49:667-763.
48. Sunyaev S., et al. Prediction of deleterious human alleles. Hum. Mol. Genet. 2001, 15:591-597.
49. Thomas P.M., et al. Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. Am. J. Hum. Genet. 1996, 59:510-518.
50. Trott O., Olson A.J. AutoDock Vina: improving the speed and accuracy of docking with a new scoring function, efficient optimization and multithreading. J. Comput. Chem. 2010, 31:455-461.
51. Verkarre V., et al. Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J. Clin. Invest. 1998, 102:1286-1291.
52. Vieira T.C., et al. Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation. Pediatr. Diabetes 2010, 11:505-508.
53. Yorifuji T., et al. Hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics. Hum. Genet. 1999, 104:476-479.